Myriad Faces of Chronic Granulomatous Disease: All in an Indian Family with Novel CYBB Defect
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To the Editor,
Chronic granulomatous disease (CGD) is a phagocytic disorder affecting the NADPH oxidase complex . Mutations in the CYBB gene result in X-linked form of CGD (XL-CGD). Female carriers of XL-CGD are known to have autoimmune phenomenon, and extreme lyonization of the X chromosome in female carriers could also result in deficient gp91phox protein and manifestations of CGD . We report a family with X-linked CGD due to a novel CYBB defect where the index patient had a severe form of CGD, sister had manifestations of CGD, and carrier mother had manifestations of lupus.
Authors thankfully acknowledge the Foundation for Primary Immunodeficiencies (FPID), USA. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. The authors also thankfully acknowledge Prof. Yu Lung Lau and Dr. Koon Wing Chan, Department of Pediatrics and Adolescent Medicine, Queen Mary Hospital, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong Special Administrative Region, China, for assistance in molecular diagnosis.
This study was financially supported by the Indian Council of Medical Research, New Delhi, and Department of Health Research, Ministry of Health and Family Welfare, Government of India, New Delhi, grant no. GIA/48/2014-DHR.
Compliance with Ethical Standards
Conflict of Interest
The authors declare that they have no conflict of interest.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
Informed consent was obtained from all individual participants included in the study
- 3.Rawat A, Vignesh P, Sharma A, Shandilya JK, Sharma M, Suri D, et al. Infection profile in chronic granulomatous disease: a 23-year experience from a tertiary care center in North India. J Clin Immunol. 2017;37(3):319–28.Google Scholar
- 4.Roos D, Kuhns DB, Maddalena A, Roesler J, Lopez JA, Ariga T, et al. Hematologically important mutations: X-linked chronic granulomatous disease (third update). Blood Cells Mol Dis. 2010;45(3):246–65.Google Scholar
- 6.Fernandez-Boyanapalli RF, Frasch SC, Thomas SM, Malcolm KC, Nicks M, Harbeck RJ, et al. Pioglitazone restores phagocyte mitochondrial oxidants and bactericidal capacity in chronic granulomatous disease. J Allergy Clin Immunol. 2015;135(2):517–527.e12.Google Scholar
- 7.Migliavacca M, Assanelli A, Ferrua F, Cicalese MP, Biffi A, Frittoli M, et al. Pioglitazone as a novel therapeutic approach in chronic granulomatous disease. J Allergy Clin Immunol. 2016;137(6):1913–1915.e2.Google Scholar
- 8.Petri M, Orbai A-M, Alarcón GS, Gordon C, Merrill JT, Fortin PR, et al. Derivation and validation of the systemic lupus international collaborating clinics classification criteria for systemic lupus erythematosus. Arthritis Rheum. 2012;64(8):2677–86.Google Scholar